When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20

BACKGROUND: Infantile hypercalcemia is an autosomal recessive disorder caused either by mutations in the CYP24A1 gene (20q13.2) or in the SLC34A1 gene (5q35.3). This disease is characterized by hypercalcemia, hypercalciuria and nephrocalcinosis in paediatric patients. Maternal uniparental disomy of...

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Bibliografische gegevens
Gepubliceerd in:Mol Cytogenet
Hoofdauteurs: Hureaux, Marguerite, Chantot-Bastaraud, Sandra, Cassinari, Kévin, Martinez Casado, Edouard, Cuny, Ariane, Frébourg, Thierry, Vargas-Poussou, Rosa, Bréhin, Anne-Claire
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2021
Onderwerpen:
Case Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8101107/
https://ncbi.nlm.nih.gov/pubmed/33952337
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-021-00543-4
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